Canonical Allele Identifier: PA2827310911
Gene: MKS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2604783
ClinVar RCV Id: RCV003357387

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317326.1:p.Glu275Lys
CA8669398
NM_001330397.2:c.823G>A